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ACOX1

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ACOX1
Identifiers
AliasesACOX1, ACOX, PALMCOX, SCOX, acyl-CoA oxidase 1, palmitoyl, acyl-CoA oxidase 1
External IDsOMIM: 609751 MGI: 1330812 HomoloGene: 38299 GeneCards: ACOX1
Gene location (Human)
Chr.Chromosome 17 (human)[1]
Band17q25.1Start75,941,507 bp[1]
End75,979,177 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001185039
NM_004035
NM_007292

NM_001271898
NM_015729
NM_001377521
NM_001377522

RefSeq (protein)

NP_001171968
NP_004026
NP_009223

NP_001258827
NP_056544
NP_001364450
NP_001364451

Location (UCSC)Chr 17: 75.94 – 75.98 MbChr 11: 116.17 – 116.2 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Peroxisomal acyl-coenzyme A oxidase 1 is an enzyme that in humans is encoded by the ACOX1 gene.[5][6]

The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to molecular oxygen, thereby producing hydrogen peroxide. Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very long chain fatty acids. Alternatively spliced transcript variants encoding different isoforms have been identified.[6]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000161533 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020777 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Varanasi U, Chu R, Chu S, Espinosa R, LeBeau MM, Reddy JK (May 1994). "Isolation of the human peroxisomal acyl-CoA oxidase gene: organization, promoter analysis, and chromosomal localization". Proc Natl Acad Sci U S A. 91 (8): 3107–11. Bibcode:1994PNAS...91.3107V. doi:10.1073/pnas.91.8.3107. PMC 43524. PMID 8159712.
  6. ^ a b "Entrez Gene: ACOX1 acyl-Coenzyme A oxidase 1, palmitoyl".

Further reading


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ACOX1
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